Arthrogryposis
Gene: ASCC1EnsemblGeneIds (GRCh38): ENSG00000138303
EnsemblGeneIds (GRCh37): ENSG00000138303
OMIM: 614215, Gene2Phenotype
ASCC1 is in 8 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
PMID: 28218388 - 1 Portuguese child with a homozygous PTC and mild arthrogryposis, and ongenital generalized hypotonia, lack of spontaneous movements and atrophic muscle fibres. Papers reviews another report (PMID: 26924529) where the Turkish patient also had arthrogryposis and the same homozygous PTC
PMID: 30327447 - 3 unrelated families with severe prenatal onset muscle weakness, neonatal hypotonia and arthrogryposis. All families had biallelic PTCs, where one family was homozygous and another compound heterozygous for the recurring p.Glu53fs*19 mutation.
Sources: LiteratureCreated: 15 Jun 2020, 12:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy with congenital bone fractures 2 MIM#616867
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Spinal muscular atrophy with congenital bone fractures 2 MIM#616867
- OMIM
- 614215
- Clinvar variants
- Variants in ASCC1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ascc1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ascc1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: ASCC1 was added gene: ASCC1 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCC1 were set to PMID: 28218388; 30327447; 26924529 Phenotypes for gene: ASCC1 were set to Spinal muscular atrophy with congenital bone fractures 2 MIM#616867 Review for gene: ASCC1 was set to GREEN